Text by Lise Murphy co-chair of the patient group
Update from the “Marfan group” HTAD at VASCERN
(As you probably know: HTAD means Heritable Thoracic Aortic Diseases at VASCERN – European Reference Networks for Vascular Diseases more info HTAD/VASCERN)
New organisations can join here.
Our network of active patient advocates in HTAD (ePAG HTAD-WG) is now a robust little group- thank you Francoise (Association Marfans – France), Elena (Marfan Hilfe – Germany) as well as Tony and Gerardo (SIMA – Spain) who answered the call to represent their Marfan organisations in HTAD. Full names and email-addresses below.
What are the plans for the patient group at the HTAD?
During autumn 2018 the active patient group hope to be ambassadors for HTAD, spreading the information of the work being done in the HTAD working group (HTAD-WG) such as consensus documents, research and the hope our network brings to the Marfan community. Our aim is that all Marfan patients should have access to diagnosis and treatment through cooperation with all various centers and hospitals we have in our countries and the HTAD-WG. This has already been achieved in some countries. In others it is under development. At national level, we contact the specialists we know and encourage co-operation. This is done in parallel to the political measures taken and the efforts from within the HTAD/VASCERN.
As you know, patients are included in the work to ensure that there is a holistic perspective on all issues that have anything to do with recommendations, guidelines and other documents. We also provide a link between the professional and patient organisations. Among the patient advocates in the HTAD there is a strong focus on quality of life issues and how we need to be aware of some lifestyle changes that can make us feel better, both physically and mentally. Sports and the role it can play both after surgery and though life. We collect initiatives from patient organisations on how you inform your members on this. Please share what your organisation does! Mail me and Gerardo!
What has been done in spring 2018?
- Clinical leads discussed and prepared consensus documents. Please, find the Patient Pathway for Heritable Thoracic Aortic Diseases (HTAD) here.
- The Do and Don’ts document where special needs concerning marfan patients in common procedures are listed will be finalized in September.
- I remind you of the video Diagnosis by Julie de Backer.
- During the face-to-face meeting the next big document on Acta2 was discussed as well as how to ensure that more cases would be discussed in the autumn in the CPMS, the EU-certified platform for secure handling of patient confidential data.
- The HTAD group in the Vascular European Reference Network (ERN) has brought many of our marfan experts together in a more formalised co-operation which gives hope to the patient community.
- The exciting new research project 101 genomes(explained in many languages) is gaining speed. Romain Alderweirdt, patient advocate in HTAD from Belgium, initiated the project. He states that: “This could never have been possible without VASCERN. To be able to talk to the experts and to have help in shaping the project from the HTAD was necessary to initiate the project. In the years to come we will have some answers and the same technique with whole genome sequencing (WGS) can be used for many other rare diseases.” We salute Romain and his family for launching this project in VASCERN and hope to support it in the future.
A Steering group for all the patient advocates in all the 24 ERNs was created to work with strategic issues, training. I am the representative for VASCERN.
What is next…?
New applications have come in from centers wanting to join the HTAD/VASCERN network.
More information and training material to be developed. The patient group is focusing on how we can encourage each other to stay as healthy as we can by exercising and taking care of ourselves. How do we prepare for surgery? How do we manage afterwards?
There will be more cases discussed on the CPMS, the tool EU has prepared so that patients can be seen virtually.
VASCERN days on October 11th and 12th, intensive days of work and collaboration. More updates after that!
Marfan Patient Advocates:
Françoise Steinbach – firstname.lastname@example.org
Gerardo Pérez Suárez and Tony Pugliese – email@example.com
Elena de Moya Rubio, ePAG HTAD deputy Chair – firstname.lastname@example.org
Lise Murphy, ePAG HTAD Chair and HTAD Patient Co-Chair – email@example.com